| Phenotype: | Xeroderma pigmentosum, group C |
|---|---|
| Dna Change: | c.1643_1644delTG |
| Protein Change: | p.Val548AlafsX25 |
| Mutation Type: | Deletion |
| Mutation Effect: | Frameshift |
| Location: | exon 9 |
| Transcript: | NM_004628.4 |
| Phenotype: | Xeroderma pigmentosum, group C |
|---|---|
| Dna Change: | c.850G>T |
| Protein Change: | p.Glu284X |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 7 |
| Transcript: | NM_004628.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | Southern | 3 patients/ 4 patients from 4 families | NA | Ben Rekaya M et al., 2013Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, Abdelhak S, . Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.. Biomed Res Int. 2013; 2013(0):316286 |
Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, Abdelhak S, Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.Biomed Res Int. 2013; 2013(0):316286
Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M, High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.J. Hum. Genet.. 2009; 54(7):426-9
Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A, Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.J. Dermatol.. 2012; 39(4):382-4
Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A, A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.J. Invest. Dermatol.. 2010; 130(6):1537-42